Canonical Allele Identifier: CA2670124699

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492640-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492642del , CM000666.2:g.17492642del	GRCh38
NC_000004.11:g.17494265del , CM000666.1:g.17494265del	GRCh37
NC_000004.10:g.17103363del	NCBI36
NG_008763.1:g.24594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-301del
ENST00000281243.10:c.437-301del MANE Select	ENSP00000281243.5:n.437-301del
ENST00000281243.9:c.437-301del	ENSP00000281243.5:n.437-301del
ENST00000428702.6:c.344-301del	ENSP00000390944.2:n.344-301del
ENST00000505710.1:c.364-1896del
ENST00000507439.5:c.437-1896del	ENSP00000423227.1:n.437-1896del
ENST00000508623.5:c.437-5405del	ENSP00000426377.1:n.437-5405del
ENST00000513615.5:c.437-1896del	ENSP00000422759.1:n.437-1896del
ENST00000514300.1:c.*368-1896del	ENSP00000426039.1:n.*368-1896del
NM_000320.2:c.437-301del	NP_000311.2:n.437-301del
NM_001306140.1:c.344-301del	NP_001293069.1:n.344-301del
XR_241677.1:n.600-1896del
NR_156494.1:n.617-1896del
NM_000320.3:c.437-301del MANE Select	NP_000311.2:n.437-301del
NM_001306140.2:c.344-301del	NP_001293069.1:n.344-301del
NR_156494.2:n.473-1896del